Publications:45
Chunli Yu, MD
About Me
Dr. Yu is an Associate Professor of Department of Pathology, Molecular and Cell-Based Medicine and Director of the Biochemical Genetic Laboratory in clinical pathology. Dr. Yu is an ABMGG certified clinical biochemical geneticist specializing in the laboratory diagnosis and monitoring of patients with inborn errors of metabolism (IEM). She is well recognized for her expertise in clinical mass spectrometry applications and development of new testing approaches for IEM diagnosis. Over the years, she has developed and performed a variety of LDTs including metabolite profiling in diverse pathways, lysosomal enzyme analyses, novel lysosomal biomarkers testing and biochemical assays for screening of congenital disorders of glycosylation (CDG). Dr. Yu has served on the American College of Medical Genetics (ACMG) Laboratory QA/QC committee for biochemical genetics and has collaborated on several ACMG and CLSI technical standards and guidelines. For the past 15 years, Dr. Yu has also been actively involved in the education and training of future generations of laboratory geneticists as the program director of the ACGME-accredited Sema4/Mount Sinai Clinical Biochemical Genetics training program.
Language
English
Position
PROFESSOR | Pathology, Molecular and Cell Based Medicine
Research Topics
Genetics, Genomics, Lysosomal Storage Diseases, Mass Spectrometry, Metabolism, Porphyria
Multi-Disciplinary Training Areas
Genetics and Genomic Sciences [GGS]
Education
Postdoctoral fellow, Yale University
Residency, Peking Union Hospital
Research
Laboratory diagnosis and monitoring of inborn errors of metabolism (IEM):
· Metabolic disorders of amino acids, organic acids and fatty acids
· Lysosomal storage disorders (LSD)
· Porphyrias
Biochemial Genetic laboratory performs comprehensive NBS confirmatory testing, including amino acids, organic acids and carnitine/acylcarnitine profiles. We also provide monitoring testing service on methylmalonic acid, orotic acid, succinylacetone and a panel of 6 amino acids in plasma and DBS samples for monitoring PKU and MSUD patients. Ourcurrent lysosomal enzyme testing (Tay-Sachs, Fabry, Gaucher, Sandhoff) and Gaucher biomarker-Chitotriosidase activity supports the Lysosomal Storage Disorders program in our department. For Tay Sachs disease, we provide comprehensive molecular and enzymatic prenatal testing for the at risk families. New 9-plexed lysosomal enzyme assay (Gaucher, Fabry, Krabbe, Nimann-Pick, Pompe, MPS I, II, IV and VI) using LC-MS/MS are coming soon to expand our LSD panel. We have developed and validated a sensitive, specific urine and plasma 5-aminolevulinic acid and porphobilinogen assay using LC-MS/MS for the diagnosis and monitoring of acute porphyria awaiting NYS approval.
Pharmocogenetics (metabolites profile):
Recently we have been approved by NYS to provide Tamoxifen metabolites analysis for ER positive breast cancer patients on Tamoxifen treatment. This assay in conjunction with CYP2D6 genotype allows the personalized treatment for breast cancer.
Publications
Selected Publications
- Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism. Sander M. Houten, Tetyana Dodatko, William Dwyer, Sara Violante, Hongjie Chen, Brandon Stauffer, Robert J. DeVita, Frédéric M. Vaz, Justin R. Cross, Chunli Yu, João Leandro. Journal of Inherited Metabolic Disease
- A mitochondrial long-chain fatty acid oxidation defect leads to transfer RNA uncharging and activation of the integrated stress response in the mouse heart. Pablo Ranea-Robles, Natalya N. Pavlova, Aaron Bender, Andrea S. Pereyra, Jessica M. Ellis, Brandon Stauffer, Chunli Yu, Craig B. Thompson, Carmen Argmann, Michelle Puchowicz, Sander M. Houten. Cardiovascular Research
- Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1. João Leandro, Susmita Khamrui, Chalada Suebsuwong, Peng Jen Chen, Cody Secor, Tetyana Dodatko, Chunli Yu, Roberto Sanchez, Robert J. Devita, Sander M. Houten, Michael B. Lazarus. Open Biology
Industry Relationships
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Yu has not yet completed reporting of industry relationships or has no industry relationships to report.
Mount Sinai’s faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.